Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cranioectodermal Dysplasia IFT122 disease C0432235 GermlineCausalMutation 0.73 orphanet , disgenet
Cranioectodermal Dysplasia IFT122 disease C0432235 GeneticVariation 0.73 orphanet , disgenet
Cranioectodermal Dysplasia IFT122 disease C0432235 Biomarker 0.73 orphanet , disgenet
Cranioectodermal Dysplasia IFT122 disease C0432235 CausalMutation 0.73 orphanet , disgenet
Cranioectodermal Dysplasia WDR35 disease C0432235 GeneticVariation 0.69 orphanet , disgenet
Cranioectodermal Dysplasia WDR35 disease C0432235 GermlineCausalMutation 0.69 orphanet , disgenet
Cranioectodermal Dysplasia WDR35 disease C0432235 Biomarker 0.69 orphanet , disgenet
Cranioectodermal Dysplasia WDR19 disease C0432235 GeneticVariation 0.63 orphanet , disgenet
Cranioectodermal Dysplasia WDR19 disease C0432235 GermlineCausalMutation 0.63 orphanet , disgenet
Cranioectodermal Dysplasia WDR19 disease C0432235 Biomarker 0.63 orphanet , disgenet
Cranioectodermal Dysplasia IFT43 disease C0432235 Biomarker 0.61 orphanet , disgenet
Cranioectodermal Dysplasia IFT43 disease C0432235 GermlineCausalMutation 0.61 orphanet , disgenet
Cranioectodermal Dysplasia IFT43 disease C0432235 GeneticVariation 0.61 orphanet , disgenet
Cranioectodermal Dysplasia IFT52 disease C0432235 GermlineCausalMutation 0.31 orphanet , disgenet
Cranioectodermal Dysplasia IFT52 disease C0432235 GeneticVariation 0.31 orphanet , disgenet
Cranioectodermal Dysplasia TGFB1 disease C0432235 GeneticVariation 0.02 disgenet
Cranioectodermal Dysplasia ATD disease C0432235 GeneticVariation 0.01 disgenet
Cranioectodermal Dysplasia SPAG17 disease C0432235 GeneticVariation 0.01 disgenet
Cranioectodermal Dysplasia TULP4 disease C0432235 Biomarker 0.01 disgenet
Cranioectodermal Dysplasia DPH1 disease C0432235 GeneticVariation 0.01 disgenet
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